Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1555970004
rs1555970004
AR
2 0.925 0.200 X 67546581 frameshift variant -/C delins 0.700 0
dbSNP: rs1569264288
rs1569264288
AR
2 0.925 0.200 X 67545971 frameshift variant -/CCGCTGTGCGTCCCAC delins 0.700 0
dbSNP: rs1555969684
rs1555969684
AR
2 0.925 0.200 X 67545892 frameshift variant -/G delins 0.700 0
dbSNP: rs1569265470
rs1569265470
AR
2 0.925 0.200 X 67546759 frameshift variant -/G delins 0.700 0
dbSNP: rs80265967
rs80265967
16 0.732 0.200 21 31667290 missense variant A/C;T snv 1.4E-03 1.2E-03 0.010 1.000 1 2010 2010
dbSNP: rs1555998108
rs1555998108
AR
2 0.925 0.200 X 67723776 missense variant A/T snv 0.700 0
dbSNP: rs765672269
rs765672269
5 0.851 0.120 16 1792338 stop gained C/A snv 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs730880031
rs730880031
7 0.807 0.160 22 23767438 missense variant C/A;T snv 1.8E-05; 4.4E-06 0.010 1.000 1 2016 2016
dbSNP: rs112374098
rs112374098
AR
2 0.925 0.200 X 67545417 stop gained C/A;T snv 0.700 0
dbSNP: rs137852577
rs137852577
AR
3 0.882 0.200 X 67722898 missense variant C/T snv 0.700 1.000 8 1992 2009
dbSNP: rs886039558
rs886039558
AR
2 0.925 0.200 X 67717561 stop gained C/T snv 0.700 1.000 3 1999 2005
dbSNP: rs1555997580
rs1555997580
AR
2 0.925 0.200 X 67721873 stop gained C/T snv 0.700 1.000 2 1992 2016
dbSNP: rs143040492
rs143040492
AR
3 0.882 0.200 X 67723690 missense variant C/T snv 1.1E-05 9.6E-06 0.700 1.000 1 1996 1996
dbSNP: rs1555969553
rs1555969553
AR
2 0.925 0.200 X 67545438 stop gained C/T snv 0.700 0
dbSNP: rs1569265331
rs1569265331
AR
2 0.925 0.200 X 67546597 frameshift variant CTCG/- del 0.700 0
dbSNP: rs1555996863
rs1555996863
AR
2 0.925 0.200 X 67717600 missense variant G/A snv 0.700 1.000 10 1992 2016
dbSNP: rs137852573
rs137852573
AR
6 0.807 0.280 X 67686064 missense variant G/A snv 0.700 1.000 4 1996 2006
dbSNP: rs1386577803
rs1386577803
AR
4 0.851 0.240 X 67722872 missense variant G/A snv 0.700 1.000 4 1990 2010
dbSNP: rs137852569
rs137852569
AR
10 0.752 0.320 X 67686030 missense variant G/A snv 9.4E-06 0.700 1.000 3 1992 2017
dbSNP: rs1555990470
rs1555990470
AR
2 0.925 0.200 X 67686046 missense variant G/A snv 0.700 1.000 2 1994 2010
dbSNP: rs1555995822
rs1555995822
AR
2 0.925 0.200 X 67711569 missense variant G/A snv 0.700 1.000 1 1999 1999
dbSNP: rs886041133
rs886041133
AR
3 0.882 0.200 X 67723746 missense variant G/A;C snv 5.5E-06 0.700 1.000 6 1994 2014
dbSNP: rs137852565
rs137852565
AR
2 0.925 0.200 X 67721905 stop gained G/A;C snv 5.5E-06 0.700 1.000 2 1990 2015
dbSNP: rs9332969
rs9332969
AR
5 0.827 0.240 X 67722899 missense variant G/A;T snv 0.700 1.000 11 1992 2017
dbSNP: rs137852564
rs137852564
AR
5 0.827 0.240 X 67722976 missense variant G/A;T snv 0.700 0